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Newborn screening compared to clinical identification of biochemical genetic disorders
Author(s) -
Waisbren S. E.,
Read C. Y.,
Ampola M.,
Brewster T. G.,
Demmer L.,
Greenstein R.,
Ingham C. L.,
Korson M.,
Msall M.,
Pueschel S.,
Seashore M.,
Shih E.,
Levy H. L.
Publication year - 2002
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/a:1022003726224
Subject(s) - human genetics , identification (biology) , medicine , bioinformatics , computational biology , genetics , biology , gene , botany
A group of 28 patients with inherited metabolic disease (homocystinuria galactosaemia, maple syrup urine disease and biotinidase deficiency) diagnosed by screening were compared with a group of 17 similar patients identified clinically. The rate of hospitalization was similar for the two groups. The patients diagnosed clinically showed a higher incidence of mental retardation and their parents experienced greater stress and found greater difficulty in meeting their child's needs.